Know the Signs, Fight for Victory
Stickler syndrome is a group of genetic disorders that affects connective tissue, specifically collagen. The condition is characterized by facial abnormalities, ocular problems, hearing loss, and joint problems. What are the features of Stickler syndrome? How prevalent is Stickler syndrome? What other names do people use for Stickler syndrome? How is Stickler syndrome diagnosed? Find […]
MASS Phenotype is a connective tissue disorder that is similar to Marfan syndrome in that people with the condition have the similar Mitral valve, Aorta, Skin, and Skeletal features. People with MASS phenotype do not have lens dislocation, but rather myopia (nearsightedness), and do not show progressive and dangerous aortic root enlargement, hallmark features of Marfan syndrome. What other […]
A thoracic aortic aneurysm is an enlargement of the aorta in the thoracic cavity (chest area), which is the first part of the artery that takes blood away from the heart. A thoracic aortic aneurysm can progressively enlarge over time and doesn’t usually have symptoms. However, if an enlarged aneurysm is not surgically repaired, it […]
Ehlers-Danlos Syndrome hypermobility type is one of six different types of Ehlers-Danlos syndromes, and it is the most common. Ehlers-Danlos syndrome hypermobility type is a connective tissue disorder that predominantly affects the skeletal system. It is characterized by loose joints, often associated with chronic (long-term) joint pain. What other names do people use for Ehlers-Danlos […]
In some families, dislocation of the lens of the eye (ectopia lentis) is the predominant feature that passes from generation to generation. Sometimes, this occurs along with some of the skeletal (bone and joint) features of Marfan syndrome. This combination of features is called ectopia lentis syndrome. What are the characteristics of ectopia lentis syndrome? […]
Shprintzen-Goldberg Syndrome is a condition that affects many parts of the body. People who have this syndrome have a combination of unique facial features and skeletal and neurological abnormalities. Shprintzen-Goldberg syndrome is caused by genetic changes (mutations) in a gene that contributes to the formation of connective tissue. How prevalent is Shprintzen-Goldberg syndrome? What are […]
Bicuspid aortic valve (BAV) is a defect of the aortic valve that is present at birth. The aortic valve allows oxygen-rich blood to flow from the heart to the aorta. The aorta is the major blood vessel that brings blood to the body. Normally, there are three valve flaps (leaflets) in the aortic valve. In a person who […]
Use this form to request printed versions of our fact sheets, brochures, and booklets.